GENETIC ALTERATIONS IN ISOCITRATE DEHYDROGENASE AND OTHER GENES IN MALIGNANT GLIOMA

• Main Authors: YAN HAI, ZHANG XIAOSONG, KUAN CHIEN-TSUN, PHILIPP ANGENENDT, KINZLER KENNETH W, RACHEL KARCHIN, SIAN JONES, DARELL BIGNER, BERT VOGELSTEIN, D WILLIAMS PARSONS, REBECCA J LEARY, RIGGINS GREGORY J, VICTOR VELCULESCU, NICKOLAS PAPADOPOULOS, LIN JIMMY CHANG-HO, GIOVANNI PARMIGIANI
• Format: Patent
• Language: English
• Published: 19.06.2014
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; COMPOSITIONS THEREOF; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; CULTURE MEDIA; ENZYMOLOGY; INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES; MEASURING; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PHYSICS; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; TESTING; VINEGAR; WINE

PROBLEM TO BE SOLVED: To provide a method of characterizing a glioblastoma multiforme (GBM) tumor in a human subject.SOLUTION: Mutations of the R132 residue of isocitrate dehydrogenase (IDH)1 are found in the majority of grade II and III astrocytomas and oligodendrogliomas as well as in glioblastomas that develop from these lower grade lesions. Those tumors without mutations in IDH1 often had mutations at the analogous R172 residue of the closely related IDH2 gene. A GBM tumor of a human subject is analyzed to identify the presence or absence of a somatic mutation at codon 132 in IDH1 or at codon 172 in isocitrate dehydrogenase IDH2, thereby identifying the tumor as the one that is more likely to be a secondary GBM when the somatic mutation exists or as the one that is more likely to be a primary GBM when the somatic mutation does not exist.